LAS1L (LAS1 like ribosome biogenesis factor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81887
Gene name Gene Name - the full gene name approved by the HGNC.
LAS1 like ribosome biogenesis factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LAS1L
Synonyms (NCBI Gene) Gene synonyms aliases
Las1, Las1-like, MRXSWTS, WTS, dJ475B7.2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq12
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs797044926 C>T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1057518699 G>A Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057522039 G>A Likely-pathogenic Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1602612611 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(44)
miRTarBase ID miRNA Experiments Reference
MIRT022244 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT051007 hsa-miR-17-5p CLASH 23622248
MIRT1104955 hsa-miR-181a CLIP-seq
MIRT1104956 hsa-miR-181b CLIP-seq
MIRT1104957 hsa-miR-181c CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0000460 Process Maturation of 5.8S rRNA IBA
GO:0000470 Process Maturation of LSU-rRNA IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0004519 Function Endonuclease activity IEA
GO:0005515 Function Protein binding IPI 22046132, 31288032
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300964 25726 ENSG00000001497
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y4W2
Protein name Ribosomal biogenesis protein LAS1L (Endoribonuclease LAS1L) (EC 3.1.-.-) (Protein LAS1 homolog)
Protein function Required for the synthesis of the 60S ribosomal subunit and maturation of the 28S rRNA (PubMed:20647540). Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTO
PDB 8FL2 , 8FL3 , 8FL4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04031 Las1 43 → 187 Las1-like Family
Sequence 
MSWESGAGPGLGSQGMDLVWSAWYGKCVKGKGSLPLSAHGIVVAWLSRAEWDQVTVYLFC
DDHKLQRYALNRITVWRSRSGNELPLAVASTADLIRCKLLDVTGGLGTDELRLLYGMALV
RFVNLISERKTKFAKVPLKCLAQEVNIPDWIVDLRHELTHKKMPHINDCRRGCYFVLDWL
QKTYWCRQLENSLRETWELEEFREGIEEEDQEEDKNIVVDDITEQKPEPQDDGKSTESDV
KADGDSKGSEEVDSHCKKALSHKELYERARELLVSYEEEQFTVLEKFRYLPKAIKAWNNP
SPRVECVLAELKGVTCENREAVLDAFLDDGFLVPTFEQLAALQIEYEDGQTEVQRGEGTD
PKSHKNVDLNDVLVPKPFSQFWQPLLRGLHSQNFTQALLERMLSELPALGISGIRPTYIL
RWTVELIVANTKTGRNARRFSAGQWEARRGWRLFNCSASLDWPRMVESCLGSPCWASPQL
LRIIFKAMGQGLPDEEQEKLLRICSIYTQSGENSLVQEGSEASPIGKSPYTLDSLYWSVK
PASSSFGSEAKAQQQEEQGSVNDVKEEEKEEKEVLPDQVEEEEENDDQEEEEEDEDDEDD
EEEDRMEVGPFSTGQESPTAENARLLAQKRGALQGSAWQVSSEDVRWDTFPLGRMPGQTE
DPAELMLENYDTMYLLDQPVLEQRLEPSTCKTDTLGLSCGVGSGNCSNSSSSNFEGLLWS
QGQLHGLKTGLQLF
Sequence length 734
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Major pathway of rRNA processing in the nucleolus and cytosol
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Wilson-Turner Syndrome wilson-turner syndrome rs1173514495, rs1057518699, rs1602612611 N/A
Developmental Delay global developmental delay rs1057518699 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypogonadism Hypogonadism N/A N/A GWAS
Insomnia Insomnia in chronic migraine N/A N/A GWAS
Mental retardation X-linked syndromic intellectual disability, intellectual disability N/A N/A GenCC, ClinVar
Spinal Muscular Atrophy With Respiratory Distress spinal muscular atrophy with respiratory distress type 2 N/A N/A GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 32193494
Beta ketothiolase deficiency Associate 35627110
Dyspnea Associate 35627110
Intellectual Disability Associate 31288032
Mental Retardation X Linked Syndromic Christianson Type Associate 34653234
Motor Neuron Disease Associate 31288032
Muscle Hypotonia Associate 35627110
Respiratory Insufficiency Associate 35627110
Severe infantile axonal neuropathy Associate 35627110
Spinal muscular atrophy with respiratory distress 1 Associate 35627110